Neonatal diabetes mellitus: A disease linked to multiple mechanisms

Orphanet Journal of Rare Diseases

Volumn 2, Issue 1, 2007, Pages

  Polak, Michel ^a   Cavé, Hélène ^b  

^a INSERM   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIDIABETIC AGENT; EIF2AK3 PROTEIN, HUMAN; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN; GCKR PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; INSULIN; INSULIN PROMOTER FACTOR 1; INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PROTEIN KINASE R; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TRANSACTIVATOR PROTEIN; UNCLASSIFIED DRUG;

ANIMAL; CHROMOSOME 6; CLASSIFICATION; CONGENITAL MALFORMATION; DIABETES MELLITUS; GENE DUPLICATION; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; GENOME IMPRINTING; HUMAN; METHODOLOGY; MUTATION; NEWBORN; PANCREAS; PROGNOSIS; REVIEW;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; CHROMOSOMES, HUMAN, PAIR 6; DIABETES MELLITUS; EIF-2 KINASE; FORKHEAD TRANSCRIPTION FACTORS; GENE DUPLICATION; GENETIC COUNSELING; GENETIC SCREENING; GENOMIC IMPRINTING; HOMEODOMAIN PROTEINS; HUMANS; HYPOGLYCEMIC AGENTS; INFANT, NEWBORN; INSULIN; MUTATION; PANCREAS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROGNOSIS; TRANS-ACTIVATORS;

EID: 34247880183     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-12     Document Type: Review

References (48)

1. von Muhlendahl KE, Herkenhoff H: Long-term course of neonatal diabetes. N Engl J Med 1995, 333(11):704-708.
2. Shield JP, Gardner RJ, Wadsworth EJ, Whiteford ML, James RS, Robinson DO, Baum JD, Temple IK: Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed 1997, 76(1):F39-42.
3. Ferguson AW, Milner RD: Transient neonatal diabetes mellitus in sibs. Arch Dis Child 1970, 45(239):80-83.
4. Fosel S: Transient and permanent neonatal diabetes. Eur J Pediatr 1995, 154(12):944-948.
5. Shield JP, Baum JD: Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance. Arch Dis Child 1995, 72(1):56-57.
6. Metz C, Cave H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M: Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002, 141(4):483-489.
7. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP: Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000, 49(8):1359-1366.
8. Shield JP, Temple IK, Sabin M, Mackay D, Robinson DO, Betts PR, Carson DJ, Cave H, Chevenne D, Polak M: An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed 2004, 89(4):F341-3.
9. Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F: Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 2001, 27(1):68-73.
10. Marquis E, Le Monnier de Gouville I, Bouvattier C, Robert JJ, Junien C, Charron D, Hors J, Diatloff-Zito C: HLA-DRBI and DQBI genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases. Tissue Antigens 2000, 56(3):217-222.
11. Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F: Permanent diabetes mellitus in the first year of life. Diobetologia 2002, 45(6):798-804.
12. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD, Shield JP: An imprinted gene(s) for diabetes? Nat Genet 1995, 9(2): 110-112.
13. Cave H, Polak M, Drunat S, Denamur E, Czernichow P: Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 2000, 49(1):108-113.
14. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JC, James RS, Shield JP: Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Mol Genet 1996, 5(8): 1117-1121.
15. Gardner RJ, Mackay DJ, Mungall AJ, Polychronakos C, Siebert R, Shield JP, Temple IK, Robinson DO: An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000, 9(4):589-596.
16. Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA: A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001, 10(14):1475-1483.
17. Ma D, Shield JP, Dean W, Leclerc I, Knauf C, Burcelin RR, Rutter GA, Kelsey G: Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 2004, 114(3):339-348.
18. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Moines J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004, 350(18): 1838-1849.
19. Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004, 53(10):2719-2722.
20. Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Sovik O, Njolstad PR: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004, 53(10):2713-2718.
21. Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006, 355(5):456-466.
22. Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT: Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 2005, 14(7):925-934.
23. Jonsson J, Carlsson L, Edlund T, Edlund H: Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 1994, 371(6498):606-609.
24. Vaulont S, Vasseur-Cognet M, Kahn A: Glucose regulation of gene transcription. J Biol Chem 2000, 275(41):3 1555-31558.
25. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF: Pancreatic agenesis attributable to a single nucleotide deletion in the human IPFI gene coding sequence. Not Genet 1997, 15(1): 106-110.
26. Stoffers DA, Stanojevic V, Habener JF: Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. J Clin Invest 1998, 102(1):232-241.
27. Velho G, Froguel P: Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol 1998, 138(3):233-239.
28. Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI: Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001, 344(21): 1588-1592.
29. Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT: Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 2002, 45(2):290.
30. Vaxillaire M, Samson C, Cave H, Metz C, Froguel P, Polak M: Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France. Diabetologia 2002, 45(3):454-455.
31. Peake JE, McCrossin RB, Byrne G, Shepherd R: X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 1996, 74(3):F195-9.
32. Roberts J, Searle J: Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. Pediatr Pathol Lab Med 1995, 15(3):477-483.
33. Satake N, Nakanishi M, Okano M, Tomizawa K, Ishizaka A, Kojima K, Onodera M, Ariga T, Satake A, Sakiyama Y, et al.: A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 1993, 152(4):313-315.
34. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, Dupuis-Girod S, Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, Fischer A, Casanova JL: Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001, 344(23): 1758-1762.
35. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001, 27(1):20-21.
36. Wolcott CD, Rallison ML: Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 1972, 80(2):292-297.
37. Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C: EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Not Genet 2000, 25(4):406-409.
38. Harding HP, Zhang Y, Bertolotti A, Zeng H, Ron D: Perk is essential for translational regulation and cell survival during the unfolded protein response. Mol Cell 2000, 5(5):897-904.
39. Harding HP, Zeng H, Zhang Y, Jungries R, Chung P, Plesken H, Sabatini DD, Ron D: Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival. Mol Cell 2001, 7(6): 1153-1163.
40. Christen HJ, Hanefeld F, Duley JA, Simmonds HA: Distinct neurological syndrome in two brothers with hyperuricaemia. Lancet 1992, 340(8828):1167-1168.
41. Yorifuji T, Matsumura M, Okuno T, Shimizu K, Sonomura T, Muroi J, Kuno C, Takahashi Y, Okuno T: Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? J Med Genet 1994, 31 (4):331-333.
42. Hoveyda N, Shield JP, Garrett C, Chong WK, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson MH: Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. J Med Genet 1999, 36(9):700-704.
43. Atouf F, Czernichow P, Scharfmann R: Expression of neuronal traits in pancreatic beta cells. Implication of neuron-restrictive silencing factor/repressor element silencing transcription factor, a neuron-restrictive silencer. J Biol Chem 1997, 272(3): 1929-1934.
44. Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS: Mutations in PTFIA cause pancreatic and cerebellar agenesis. Not Genet 2004, 36(12):1301-1305.
45. Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C: Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Not Genet 2006, 38(6):682-687.
46. Otonkoski T, Roivainen M, Vaarala O, Dinesen B, Leipala JA, Hovi T, Knip M: Neonatal Type I diabetes associated with maternal echovirus 6 infection: a case report. Diabetologia 2000, 43(10): 1235-1238.
47. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Sovik O, Polak M, Hattersley AT: Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006, 355(5):467-477.
48. Mitamura R, Kimura H, Murakami Y, Nagaya K, Makita Y, Okuno A: Ultralente insulin treatment of transient neonatal diabetes mellitus. J Pediatr 1996, 128(2):268-270.